Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3696
Gene name Gene Name - the full gene name approved by the HGNC.
Integrin subunit beta 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ITGB8
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p21.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004104 hsa-miR-93-5p Luciferase reporter assay, qRT-PCR, Western blot 20956944
MIRT004104 hsa-miR-93-5p Luciferase reporter assay, qRT-PCR, Western blot 20956944
MIRT006279 hsa-miR-19b-1-5p Luciferase reporter assay 22197821
MIRT006279 hsa-miR-19b-1-5p Luciferase reporter assay 22197821
MIRT006494 hsa-miR-145-5p Immunofluorescence, Luciferase reporter assay, qRT-PCR 21701675
Transcription factors
Transcription factor Regulation Reference
ATF2 Unknown 21878622
JUN Unknown 21878622
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001570 Process Vasculogenesis IMP 12050137
GO:0001573 Process Ganglioside metabolic process IEA
GO:0005178 Function Integrin binding IBA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604160 6163 ENSG00000105855
Protein
UniProt ID P26012
Protein name Integrin beta-8
Protein function Integrin alpha-V:beta-8 (ITGAV:ITGB8) is a receptor for fibronectin (PubMed:1918072). It recognizes the sequence R-G-D in its ligands (PubMed:1918072). Integrin alpha-V:beta-6 (ITGAV:ITGB6) mediates R-G-D-dependent release of transforming growth
PDB 6DJP , 6OM1 , 6OM2 , 6UJA , 6UJB , 6UJC , 7Y1T , 8TCF , 8VS6 , 8VSD , 9IND
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17205 PSI_integrin 45 95 Integrin plexin domain Domain
PF00362 Integrin_beta 142 388 Integrin beta chain VWA domain Domain
PF07974 EGF_2 553 583 EGF-like domain Domain
Tissue specificity TISSUE SPECIFICITY: Placenta, kidney, brain, ovary, uterus and in several transformed cells. Transiently expressed in 293 human embryonic kidney cells. {ECO:0000269|PubMed:1918072}.
Sequence
MCGSALAFFTAAFVCLQNDRRGPASFLWAAWVFSLVLGLGQGEDNRCASSNAASCARCLA
LGPECGWCVQEDFISGGSRSERCDIVSNLISKGCS
VDSIEYPSVHVIIPTENEINTQVTP
GEVSIQLRPGAEANFMLKVHPLKKYPVDLYYLVDVSASMHNNIEKLNSVGNDLSRKMAFF
SRDFRLGFGSYVDKTVSPYISIHPERIHNQCSDYNLDCMPPHGYIHVLSLTENITEFEKA
VHRQKISGNIDTPEGGFDAMLQAAVCESHIGWRKEAKRLLLVMTDQTSHLALDSKLAGIV
VPNDGNCHLKNNVYVKSTTMEHPSLGQLSEKLIDNNINVIFAVQGKQFHWYKDLLPLLPG
TIAGEIESKAANLNNLVVEAYQKLISEV
KVQVENQVQGIYFNITAICPDGSRKPGMEGCR
NVTSNDEVLFNVTVTMKKCDVTGGKNYAIIKPIGFNETAKIHIHRNCSCQCEDNRGPKGK
CVDETFLDSKCFQCDENKCHFDEDQFSSESCKSHKDQPVCSGRGVCVCGKCSCHKIKLGK
VYGKYCEKDDFSCPYHHGNLCAGHGECEAGRCQCFSGWEGDRCQCPSAAAQHCVNSKGQV
CSGRGTCVCGRCECTDPRSIGRFCEHCPTCYTACKENWNCMQCLHPHNLSQAILDQCKTS
CALMEQQHYVDQTSECFSSPSYLRIFFIIFIVTFLIGLLKVLIIRQVILQWNSNKIKSSS
DYRVSASKKDKLILQSVCTRAVTYRREKPEEIKMDISKLNAHETFRCNF
Sequence length 769
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Cell adhesion molecules
Regulation of actin cytoskeleton
Cytoskeleton in muscle cells
Human papillomavirus infection
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
  Molecules associated with elastic fibres
Integrin cell surface interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma in any disease, Atopic asthma, Asthma onset (childhood vs adult), Asthma, Age of onset of adult onset asthma, Asthma (childhood onset), Nonatopic asthma N/A N/A GWAS
Biliary Cholangitis Primary biliary cholangitis N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Dermatitis Atopic dermatitis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Baetz Greenwalt syndrome Associate 28009100
Carcinoma Hepatocellular Associate 12174369, 12679910, 35238496, 37603520
Carcinoma Pancreatic Ductal Associate 35836806
Carcinoma Renal Cell Associate 30275756
Central Nervous System Vascular Malformations Associate 21878622
Colorectal Neoplasms Associate 34371180
Glioma Associate 32196629, 37096960
Heart Diseases Associate 28009100
Hypertension Associate 32664164
Idiopathic Pulmonary Fibrosis Associate 33672678